- Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuriaV Leuzzi
Dipartimento di Scienze Neurologiche e Psichiatriche dell Età Evolutiva, Universita La Sapienza, Rome, Italy
J Inherit Metab Dis 23:563-70. 2000....
- The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) studyV Leuzzi
Dipartimento di Scienze Neurologiche e Psichiatriche dell Età Evolutiva, University of Rome La Sapienza, Rome, Italy
J Inherit Metab Dis 30:209-16. 2007..To gain insights into the nature and pathogenesis of white matter (WM) abnormalities in PKU...
- Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathyC Carducci
Department of Experimental Medicine, University La Sapienza, Rome, Italy
Hum Genet 87:725-7. 1991....
- Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiencyV Leuzzi
Department of Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy
Clin Genet 77:249-57. 2010..A good correlation was found between genotype and clinical and biochemical phenotype. The occurrence of brain neurotransmitter deficiency and its early correction (by the therapy) are the main prognostic factors in PTPSd...
- Tyrosine hydroxylase deficiency presenting with a biphasic clinical courseT Giovanniello
Department of Experimental Medicine and Pathology, University La Sapienza, Rome, Italy
Neuropediatrics 38:213-5. 2007..He markedly improved with a very low dosage of L-DOPA/carbidopa, while higher dosages were not tolerated. Two novel mutations (p.G414R/p.L510Q) were detected in the TH gene...
- The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiencyV Leuzzi
Department of Child Neurology and Psychiatry, University of Rome La Sapienza, Via dei Sabelli 108, 00185 Roma, Rome, Italy
J Inherit Metab Dis 29:38-46. 2006..Two new mutations, Y387X and G352C, were identified (the former was BH(4)-responsive), and the responsiveness of three already reported mutations (R261Q, D338Y, T92I) was substantiated...
- Automated high-performance liquid chromatographic method for the determination of guanidinoacetic acid in dried blood spots: a tool for early diagnosis of guanidinoacetate methyltransferase deficiencyC Carducci
Dipartimento di Medicina Sperimentale e Patologia, Universita degli Studi di Roma La Sapienza, Rome, Italy
J Chromatogr B Biomed Sci Appl 755:343-8. 2001..GAA concentration was found to be nearly 12-fold higher than the mean control value. We propose this method as an inexpensive and widely applicable tool for the diagnosis of GAMT deficiency...
- Executive function impairment in early-treated PKU subjects with normal mental developmentV Leuzzi
Department of Child Neurology and Psychiatry, Universita La Sapienza, Via dei Sabelli 108, 00185 Rome, Italy
J Inherit Metab Dis 27:115-25. 2004....
- Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484A Torroni
Dipartimento di Genetica e Biologia Molecolare, Universita di Roma La Sapienza, Rome, Italy
Am J Hum Genet 60:1107-21. 1997..This finding suggests that one ancient combination of haplogroup J-specific mutations increases both the penetrance of the two primary mutations 11778 and 14484 and the risk of disease expression...
- Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathiesMiriam Iannicelli
Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo and CSS Mendel Institute, Viale Regina Margherita 261, Rome, Italy
Hum Mutat 31:E1319-31. 2010..These exons encode for a region of unknown function in the extracellular domain of meckelin...